Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 43
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 32
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs61755320
SPG7
0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 41
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv 57
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 32
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs1556914274
HUWE1
0.790 0.440 X 53537626 missense variant G/A snv 13
rs397507478
BRAF
0.790 0.440 7 140777014 missense variant C/A snv 12
rs886041125
ANKRD11
0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 12
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs121909219
PTEN
0.689 0.400 10 87957915 stop gained C/A;T snv 25
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 22
rs527656756
MTA3 ; HAAO
0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05 21
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del 20